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Preventing breast and ovarian cancers in high-risk BRCA1 and BRCA2 mutation carriers

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Women with a mutation in the cancer predisposition genes BRCA1 or BRCA2 have a high lifetime risk of breast cancer and ovarian cancer (defined in this article as high-grade serous cancers of the ovary, fallopian tube or peritoneum). By the age of 70 years, the average risk for BRCA1 mutation carriers is 65% for breast cancer and 39% for ovarian cancer; these risks are 45% and 11%, respectively, for BRCA2 mutation carriers.1 Mutation carriers are at increased risk of breast cancer even in their 30s.1 By contrast, the risk of ovarian cancer does not increase above that of the general population until around the age of 40 years for BRCA1 mutation carriers, and about 50 years for BRCA2 mutation carriers.1 These cancer risks can be greatly reduced with risk-reducing surgery and medication (Box 1).

Multiple non-randomised studies have shown that risk-reducing mastectomy (RRM) and risk-reducing bilateral salpingo-oophorectomy (RRBSO) are associated with a reduction in risk of over 90%…